Search

Genetic and environmental factors have an influence on the process of growth and development of the body. One of numerous genetic factors can be the vitamin D receptor gene (VDR). The study aimed at evaluating the relationship between VDR polymorphism and somatic parameters in children.Patients and methods:The study group consisted of 395 children, aged 6-18 years. All the patients underwent gene typing using the PCR-RFLP method within polymorphic loci BsmI (rs1544410), FokI (rs2228570), ApaI (rs7975232) and TaqI (rs731236) of the VDR receptor gene. 294 children made up the control group in the study on the incidence of particular genotypes; in 161 patients somatic measurements of body weight and height were made with standard methods and skeletal densitometry (total body and spine programmes) examination was performed. Statistica 10.0 PL was used for statistical analysis.Results:In patients with low bone mass a relationship between body height and FokI VDR polymorphism was noted. The p-value was statistically significantly different in group I (p=0.002) and borderline significant in group III (p=0.09). None of the polymorphisms of the VDR receptor gene demonstrated any statistically significant differences in anthropometric values in the control group and in children with osteoporosis. Summary:The presence of the F allele of FokI polymorphism of the VDR receptor gene results in increased height, which is best observed in children with low bone mass. The FF genotype favours increased height in the study group of children from Ł ódź. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Cutaneous Medicine & Surgery is the property of Sage Publications Inc. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Impaired circadian blood pressure (BP) variation (i.e. lack of nocturnal BP fall by at least 10% of daytime values; 'non-dipping') is associated with increased risk of cardiovascular events. Blunted circadian BP profile is common in hypertension and autonomic neuropathy as well as in patients with renal function impairment. However, pathophysiology of non-dipping phenomenon in normotensive diabetes subjects with normal autonomic function and without nephropathy is unclear. We studied whether angiotensin converting enzyme (ACE) insertion/deletion (I/D) gene polymorphism, known for its role in BP regulation, may play a role in 24-hour BP rhythm control. The study group comprised 34 normotensive normoalbuminuric type 2 diabetes patients with no signs of autonomic neuropathy (18 women, 16 men, mean [±SD] age 594±9 years, BMI 29.24-3.4 kg/m², diabetes duration 7.9±5.1 years, HbA[sub 1c] 8.6±1.4%) with impaired BP variation, the controls were 49 normotensive normoalbuminuric type 2 diabetes subjects (28 women, 21 men, age 624±10 years, BM1 30.3±3.9 kg/m², diabetes duration 8.5±3.1 years, HbA[sub 1c] 8.2±1.1%) with normal 24-hour BP rhythm. ACE I/D polymorphism as well as endothelial function and subclinical inflammation parameters (endothelin-1, sE-selectin, soluble intercellular (sICAM) and vascular (sVCAM) cell adhesion molecules, tumor necrosis factor-α (TNF-α) were assessed with ELISA in all the subjects. ACE DD genotype was found in 24 (71%) and ID in 10 (29%) study group subjects; 3 (6%) control subjects had DD, 32 (65%) - ID, and 14 (29%) - II genotype p<0.001). In the study and control group subjects fasting serum endothelin-1 was 7.9±:1.4 and 6.3±0.8 pg/ml (p<0.05), sE-selectin 28.9±12.2 and 18.2±12.7 ng/ml (p<0.05), ICAM 1569±732 and 755±473 ng/ml (p<0.01), VCAM 1932±556 and 1173±701 ng/ml (p<0.05), respectively. No statistically significant difference was found in serum TNF-α (85.7±83.3 and 82.8±73.3 pg/ml, p>0.05) between the groups. In conclusion, impaired circadian BP variation in normotensive normoalbuminuric type 2 diabetes patients is strongly associated with ACE DD genotype and marked endothelial dysfunction when compared to the subjects with normal BP rhythm. These findings may offer plausible explanation for the non-dipping phenomenon in normotensive normoalbuminuric type 2 diabetes patients. [ABSTRACT FROM AUTHOR]

Background: Human leukocyte antigens (HLA) complex and INS-IGF2 5'VNTR loci are principal determinants of the risk of type 1 diabetes mellitus (T1DM). Carriage of class III allele is protective, while class I/I homozygosity increases the risk of T1DM., Material and Methods: HLA and 5'VNTR allele frequencies were summarised and multivariate logistic regression models with interaction evaluation were employed to determine the presence and types of allele effect interdependency. The study group was planned to number 590 children who would undergo genotyping of 5'VNTR and HLA., Results: 590 patients (302 with T1DM and 288 controls) were recruited. Frequencies of HLA risk alleles were: 117 carriers of DR3-DQ2; 130 carriers of DR4-DQ8 including 43 DR3-DQ2/DR4-DQ8 heterozygotes. In all cases, risk alleles were vastly overrepresented in the T1DM group compared to the controls (p < 0.0001 in all cases). The most frequent protective haplotype was DQB1 × 0602 observed in 24 controls and two T1DM cases (p < 0.001). Class I 5'VNTR homozygotes constituted 58% of the control group (n = 174) and 78% (n = 224) of T1DM patients [OR = 2.63 (95% CI: 1.79-3.57)]. Interactions between 5'VNTR and DR3-DQ2 or DR4-DQ8 variants did not reach statistical significance for risk of developing T1DM (p = 0.54 and 0.24) or age at its diagnosis (p = 0.14 and 0.67 respectively)., Conclusions: Interactions between HLA and 5'VNTR genotype are not of multiplicative character. Class I homozygosity at 5'VNTR is a significant risk factor of T1DM and acts independently from HLA haplotype in determining the actual risk of diabetes in children.

Recently, we purified a population of CXCR4+/Oct-4+/SSEA-1+/Sca-1+/Lin(-)/CD45(-) very small embryonic-like stem cells (VSELs) from adult murine bone marrow (BM). After using flow cytometry, ImageStream analysis, confocal microscopy, and real time RT-PCR, we report that similar cells could be also identified and isolated from several organs in adult mice. The highest total numbers of Oct-4+ VSELs were found in the brain, kidneys, muscles, pancreas, and BM. These observations support our hypothesis that a population of very primitive cells expressing germ line/epiblast markers (Oct-4, SSEA-1) is deposited early during embryogenesis in various organs and survives into adulthood. Further studies are needed to determine whether these cells, after being isolated from various adult human organs similarly to their murine BM-derived counterparts, are endowed with pluripotent stem cell properties.